BMC GeneticsPub Date : 2023-12-15DOI: 10.1186/s12863-023-01180-z
Nannan Dai, Yujuan Deng, Baishi Wang
{"title":"Association between human blood metabolome and the risk of hypertension","authors":"Nannan Dai, Yujuan Deng, Baishi Wang","doi":"10.1186/s12863-023-01180-z","DOIUrl":"https://doi.org/10.1186/s12863-023-01180-z","url":null,"abstract":"Hypertension, commonly referred to as high blood pressure, is a chronic medical condition characterized by persistently elevated blood pressure levels. It is a prevalent global health issue, affecting a significant portion of the population worldwide. Hypertension is often asymptomatic, making it a silent but potentially dangerous condition if left untreated. Genetic instruments for 1,091 were from a recent comprehensive metabolome genome-wide association study (GWAS). Summary statistics of diastolic blood pressure (DBP) and systolic blood pressure (SBP) involving 757,601 sample size were analyzed. Two-sample Mendelian Randomization (MR) was conducted to assess causal effect of metabolites on DBP and SBP risk, and reverse MR analysis was performed to identify the DBP/SBP causal effect on blood metabolites. Twelve and twenty-two metabolites were identified to be associated with DBP and SBP, respectively. Sensitive analysis showed four metabolites had robustness association on BP. Reverse MR demonstrated DBP and SBP could decrease the tricosanoyl sphingomyelin (d18:1/23:0)* level and increase the 2-hydroxyhippurate (salicylurate) level in blood, respectively. Our findings reveal an association between blood metabolites and blood pressure (DBP and SBP), suggesting potential therapeutic targets for hypertension intervention.","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":"9 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138690819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Diverse WGBS profiles of longissimus dorsi muscle in Hainan black goats and hybrid goats","authors":"Yuwei Ren, Xing Chen, Xinli Zheng, Feng Wang, Ruiping Sun, Limin Wei, Yan Zhang, Hailong Liu, Yanning Lin, Lingling Hong, Xiaoxian Huang, Zhe Chao","doi":"10.1186/s12863-023-01182-x","DOIUrl":"https://doi.org/10.1186/s12863-023-01182-x","url":null,"abstract":"Goat products have played a crucial role in meeting the dietary demands of people since the Neolithic era, giving rise to a multitude of goat breeds globally with varying characteristics and meat qualities. The primary objective of this study is to pinpoint the pivotal genes and their functions responsible for regulating muscle fiber growth in the longissimus dorsi muscle (LDM) through DNA methylation modifications in Hainan black goats and hybrid goats. Whole-genome bisulfite sequencing (WGBS) was employed to scrutinize the impact of methylation on LDM growth. This was accomplished by comparing methylation differences, gene expression, and their associations with growth-related traits. In this study, we identified a total of 3,269 genes from differentially methylated regions (DMR), and detected 189 differentially expressed genes (DEGs) through RNA-seq analysis. Hypo DMR genes were primarily enriched in KEGG terms associated with muscle development, such as MAPK and PI3K-Akt signaling pathways. We selected 11 hub genes from the network that intersected the gene sets within DMR and DEGs, and nine genes exhibited significant correlation with one or more of the three LDM growth traits, namely area, height, and weight of loin eye muscle. Particularly, PRKG1 demonstrated a negative correlation with all three traits. The top five most crucial genes played vital roles in muscle fiber growth: FOXO3 safeguarded the myofiber’s immune environment, FOXO6 was involved in myotube development and differentiation, and PRKG1 facilitated vasodilatation to release more glucose. This, in turn, accelerated the transfer of glucose from blood vessels to myofibers, regulated by ADCY5 and AKT2, ultimately ensuring glycogen storage and energy provision in muscle fibers. This study delved into the diverse methylation modifications affecting critical genes, which collectively contribute to the maintenance of glycogen storage around myofibers, ultimately supporting muscle fiber growth.","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":"152 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2023-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138628033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC GeneticsPub Date : 2023-12-14DOI: 10.1186/s12863-023-01183-w
Pan Chen, Ju-Yu Lian, Bin Wu, Hong-Lin Cao, Zhi-Hong Li, Zheng-Feng Wang
{"title":"Draft genome of Castanopsis chinensis, a dominant species safeguarding biodiversity in subtropical broadleaved evergreen forests","authors":"Pan Chen, Ju-Yu Lian, Bin Wu, Hong-Lin Cao, Zhi-Hong Li, Zheng-Feng Wang","doi":"10.1186/s12863-023-01183-w","DOIUrl":"https://doi.org/10.1186/s12863-023-01183-w","url":null,"abstract":"Castanopsis is the third largest genus in the Fagaceae family and is essentially tropical or subtropical in origin. The species in this genus are mainly canopy-dominant trees, and the key components of evergreen broadleaved forests play a crucial role in the maintenance of local biodiversity. Castanopsis chinensis, distributed from South China to Vietnam, is a representative species. It currently suffers from a high disturbance of human activity and climate change. Here, we present its assembled genome to facilitate its preliminary conservation and breeding on the genome level. The C. chinensis genome was assembled and annotated by Nanopore and MGI whole-genome sequencing and RNA-seq reads using leaf tissues. The assembly was 888,699,661 bp in length, consisting of 133 contigs and a contig N50 of 23,395,510 bp. A completeness assessment of the assembly with Benchmarking Universal Single-Copy Orthologs (BUSCO) indicated a score of 98.3%. Repetitive elements comprised 471,006,885 bp, accounting for 55.9% of the assembled sequences. A total of 51,406 genes that coded for 54,310 proteins were predicted. Multiple databases were used to functionally annotate the protein sequences.","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":"167 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2023-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138690820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC GeneticsPub Date : 2023-12-13DOI: 10.1186/s12863-023-01181-y
John P. Hamilton, Brieanne Vaillancourt, Joshua C. Wood, Haiyan Wang, Jiming Jiang, Douglas E. Soltis, C. Robin Buell, Pamela S. Soltis
{"title":"Chromosome-scale genome assembly of the ‘Munstead’ cultivar of Lavandula angustifolia","authors":"John P. Hamilton, Brieanne Vaillancourt, Joshua C. Wood, Haiyan Wang, Jiming Jiang, Douglas E. Soltis, C. Robin Buell, Pamela S. Soltis","doi":"10.1186/s12863-023-01181-y","DOIUrl":"https://doi.org/10.1186/s12863-023-01181-y","url":null,"abstract":"Lavandula angustifolia (English lavender) is commercially important not only as an ornamental species but also as a major source of fragrances. To better understand the genomic basis of chemical diversity in lavender, we sequenced, assembled, and annotated the ‘Munstead’ cultivar of L. angustifolia. A total of 80 Gb of Oxford Nanopore Technologies reads was used to assemble the ‘Munstead’ genome using the Canu genome assembler software. Following multiple rounds of error correction and scaffolding using Hi-C data, the final chromosome-scale assembly represents 795,075,733 bp across 25 chromosomes with an N50 scaffold length of 31,371,815 bp. Benchmarking Universal Single Copy Orthologs analysis revealed 98.0% complete orthologs, indicative of a high-quality assembly representative of genic space. Annotation of protein-coding sequences revealed 58,702 high-confidence genes encoding 88,528 gene models. Access to the ‘Munstead’ genome will permit comparative analyses within and among lavender accessions and provides a pivotal species for comparative analyses within Lamiaceae.","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":"71 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2023-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138580859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC GeneticsPub Date : 2023-12-13DOI: 10.1186/s12863-023-01174-x
Letícia Fernanda de Oliveira, Luiz F. Brito, Daniele Botelho Diniz Marques, Delvan Alves da Silva, Paulo Sávio Lopes, Cassiane Gomes dos Santos, Jay S. Johnson, Renata Veroneze
{"title":"Investigating the impact of non-additive genetic effects in the estimation of variance components and genomic predictions for heat tolerance and performance traits in crossbred and purebred pig populations","authors":"Letícia Fernanda de Oliveira, Luiz F. Brito, Daniele Botelho Diniz Marques, Delvan Alves da Silva, Paulo Sávio Lopes, Cassiane Gomes dos Santos, Jay S. Johnson, Renata Veroneze","doi":"10.1186/s12863-023-01174-x","DOIUrl":"https://doi.org/10.1186/s12863-023-01174-x","url":null,"abstract":"Non-additive genetic effects are often ignored in livestock genetic evaluations. However, fitting them in the models could improve the accuracy of genomic breeding values. Furthermore, non-additive genetic effects contribute to heterosis, which could be optimized through mating designs. Traits related to fitness and adaptation, such as heat tolerance, tend to be more influenced by non-additive genetic effects. In this context, the primary objectives of this study were to estimate variance components and assess the predictive performance of genomic prediction of breeding values based on alternative models and two independent datasets, including performance records from a purebred pig population and heat tolerance indicators recorded in crossbred lactating sows. Including non-additive genetic effects when modelling performance traits in purebred pigs had no effect on the residual variance estimates for most of the traits, but lower additive genetic variances were observed, especially when additive-by-additive epistasis was included in the models. Furthermore, including non-additive genetic effects did not improve the prediction accuracy of genomic breeding values, but there was animal re-ranking across the models. For the heat tolerance indicators recorded in a crossbred population, most traits had small non-additive genetic variance with large standard error estimates. Nevertheless, panting score and hair density presented substantial additive-by-additive epistatic variance. Panting score had an epistatic variance estimate of 0.1379, which accounted for 82.22% of the total genetic variance. For hair density, the epistatic variance estimates ranged from 0.1745 to 0.1845, which represent 64.95–69.59% of the total genetic variance. Including non-additive genetic effects in the models did not improve the accuracy of genomic breeding values for performance traits in purebred pigs, but there was substantial re-ranking of selection candidates depending on the model fitted. Except for panting score and hair density, low non-additive genetic variance estimates were observed for heat tolerance indicators in crossbred pigs.","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":"6 1","pages":""},"PeriodicalIF":2.9,"publicationDate":"2023-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138581240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC GeneticsPub Date : 2020-12-18DOI: 10.1186/s12863-020-00941-4
Pasquale Primo, Angela Meccariello, Maria Grazia Inghilterra, Andrea Gravina, Giuseppe Del Corsano, Gennaro Volpe, Germano Sollazzo, Serena Aceto, Mark D Robinson, Marco Salvemini, Giuseppe Saccone
{"title":"Targeting the autosomal Ceratitis capitata transformer gene using Cas9 or dCas9 to masculinize XX individuals without inducing mutations.","authors":"Pasquale Primo, Angela Meccariello, Maria Grazia Inghilterra, Andrea Gravina, Giuseppe Del Corsano, Gennaro Volpe, Germano Sollazzo, Serena Aceto, Mark D Robinson, Marco Salvemini, Giuseppe Saccone","doi":"10.1186/s12863-020-00941-4","DOIUrl":"10.1186/s12863-020-00941-4","url":null,"abstract":"<p><strong>Background: </strong>Females of the Mediterranean fruit fly Ceratitis capitata (Medfly) are major agricultural pests, as they lay eggs into the fruit crops of hundreds of plant species. In Medfly, female sex determination is based on the activation of Cctransformer (Cctra). A maternal contribution of Cctra is required to activate Cctra itself in the XX embryos and to start and epigenetically maintain a Cctra positive feedback loop, by female-specific alternative splicing, leading to female development. In XY embryos, the male determining Maleness-on-the-Y gene (MoY) blocks this activation and Cctra produces male-specific transcripts encoding truncated CcTRA isoforms and male differentiation occurs.</p><p><strong>Results: </strong>With the aim of inducing frameshift mutations in the first coding exon to disrupt both female-specific and shorter male-specific CcTRA open reading frames (ORF), we injected Cas9 ribonucleoproteins (Cas9 and single guide RNA, sgRNA) in embryos. As this approach leads to mostly monoallelic mutations, masculinization was expected only in G<sub>1</sub> XX individuals carrying biallelic mutations, following crosses of G<sub>0</sub> injected individuals. Surprisingly, these injections into XX-only embryos led to G<sub>0</sub> adults that included not only XX females but also 50% of reverted fertile XX males. The G<sub>0</sub> XX males expressed male-specific Cctra transcripts, suggesting full masculinization. Interestingly, out of six G<sub>0</sub> XX males, four displayed the Cctra wild type sequence. This finding suggests that masculinization by Cas9-sgRNA injections was independent from its mutagenic activity. In line with this observation, embryonic targeting of Cctra in XX embryos by a dead Cas9 (enzymatically inactive, dCas9) also favoured a male-specific splicing of Cctra, in both embryos and adults.</p><p><strong>Conclusions: </strong>Our data suggest that the establishment of Cctra female-specific autoregulation during the early embryogenesis has been repressed in XX embryos by the transient binding of the Cas9-sgRNA on the first exon of the Cctra gene. This hypothesis is supported by the observation that the shift of Cctra splicing from female to male mode is induced also by dCas9. Collectively, the present findings corroborate the idea that a transient embryonic inactivation of Cctra is sufficient for male sex determination.</p>","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":"21 Suppl 2","pages":"150"},"PeriodicalIF":2.9,"publicationDate":"2020-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7747381/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38727492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC GeneticsPub Date : 2020-12-18DOI: 10.1186/s12863-020-00948-x
Carolina Concha, Ying Yan, Alex Arp, Evelin Quilarque, Agustin Sagel, Adalberto Pérez de León, W Owen McMillan, Steven Skoda, Maxwell J Scott
{"title":"An early female lethal system of the New World screwworm, Cochliomyia hominivorax, for biotechnology-enhanced SIT.","authors":"Carolina Concha, Ying Yan, Alex Arp, Evelin Quilarque, Agustin Sagel, Adalberto Pérez de León, W Owen McMillan, Steven Skoda, Maxwell J Scott","doi":"10.1186/s12863-020-00948-x","DOIUrl":"https://doi.org/10.1186/s12863-020-00948-x","url":null,"abstract":"<p><strong>Background: </strong>The New World Screwworm fly (NWS), Cochliomyia hominivorax, is an ectoparasite of warm-blooded animals and a major pest of livestock in parts of South America and the Caribbean where it remains endemic. In North and Central America it was eradicated using the Sterile Insect Technique (SIT). A control program is managed cooperatively between the governments of the United States and Panama to prevent the northward spread of NWS from infested countries in South America. This is accomplished by maintaining a permanent barrier through the release of millions of sterile male and female flies in the border between Panama and Colombia. Our research team demonstrated the utility of biotechnology-enhanced approaches for SIT by developing a male-only strain of the NWS. The strain carried a single component tetracycline repressible female lethal system where females died at late larval/pupal stages. The control program can be further improved by removing females during embryonic development as larval diet costs are significant.</p><p><strong>Results: </strong>The strains developed carry a two-component system consisting of the Lucilia sericata bottleneck gene promoter driving expression of the tTA gene and a tTA-regulated Lshid proapoptotic effector gene. Insertion of the sex-specifically spliced intron from the C. hominivorax transformer gene within the Lshid gene ensures that only females die when insects are reared in the absence of tetracycline. In several double homozygous two-component strains and in one \"All-in-one\" strain that had both components in a single construct, female lethality occurred at the embryonic and/or first instar larval stages when raised on diet without tetracycline. Laboratory evaluation for phenotypes that are relevant for mass rearing in a production facility revealed that most strains had fitness characteristics similar to the wild type J06 strain that is currently reared for release in the permanent barrier. Testing of an \"All in one\" strain under mass rearing conditions showed that the strain maintained the fitness characteristics observed in small-scale rearing.</p><p><strong>Conclusions: </strong>The early female lethal strains described here could be selected by the NWS Control Program for testing at large scale in the production facility to enhance the efficiency of the NWS eradication program.</p>","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":"21 Suppl 2","pages":"143"},"PeriodicalIF":2.9,"publicationDate":"2020-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12863-020-00948-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38727497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC GeneticsPub Date : 2020-12-18DOI: 10.1186/s12863-020-00942-3
Alfred M Handler, Marc F Schetelig
{"title":"The hAT-family transposable element, hopper, from Bactrocera dorsalis is a functional vector for insect germline transformation.","authors":"Alfred M Handler, Marc F Schetelig","doi":"10.1186/s12863-020-00942-3","DOIUrl":"https://doi.org/10.1186/s12863-020-00942-3","url":null,"abstract":"<p><strong>Background: </strong>The hopper hAT-family transposable element isolated from the Oriental fruit fly, Bactrocera dorsalis, is distantly related to both the Drosophila hobo element and the Activator element from maize. The original 3120 bp hopper<sup>Bd-Kah</sup> element isolated from the Kahuku wild-type strain was highly degenerate and appeared to have a mutated transposase and terminal sequences, while a second 3131 bp element, hopper<sup>Bd-we</sup>, isolated from a white eye mutant strain had an intact transposase reading frame and terminal sequences consistent with function.</p><p><strong>Results: </strong>The hopper<sup>Bd-we</sup> element was tested for function by its ability to mediate germline transformation in two dipteran species other than B. dorsalis. This was achieved by creating a binary vector/helper transformation system by linking the hopper<sup>Bd-we</sup> transposase reading frame to a D. melanogaster hsp70 promoter for a heat-inducible transposase helper plasmid, and creating vectors marked with the D. melanogaster mini-white<sup>+</sup> or polyubiquitin-regulated DsRed fluorescent protein markers.</p><p><strong>Conclusions: </strong>Both vectors were successfully used to transform D. melanogaster, and the DsRed vector was also used to transform the Caribbean fruit fly, Anastrepha suspensa, indicating a wide range of hopper function in dipteran species and, potentially, non-dipteran species. This vector provides a new tool for insect genetic modification for both functional genomic analysis and the control of insect populations.</p>","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":"21 Suppl 2","pages":"137"},"PeriodicalIF":2.9,"publicationDate":"2020-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12863-020-00942-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38727493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC GeneticsPub Date : 2020-12-18DOI: 10.1186/s12863-020-00931-6
Kostas Bourtzis, Carlos Cáceres, Marc F Schetelig
{"title":"Joint FAO/IAEA coordinated research project on \"comparing rearing efficiency and competitiveness of sterile male strains produced by genetic, transgenic or symbiont-based technologies\".","authors":"Kostas Bourtzis, Carlos Cáceres, Marc F Schetelig","doi":"10.1186/s12863-020-00931-6","DOIUrl":"10.1186/s12863-020-00931-6","url":null,"abstract":"","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":"21 Suppl 2","pages":"148"},"PeriodicalIF":2.9,"publicationDate":"2020-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7747360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38727498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC GeneticsPub Date : 2020-12-18DOI: 10.1186/s12863-020-00944-1
María Cecilia Giardini, Mariela Nieves, Alejandra Carla Scannapieco, Claudia Alejandra Conte, Fabián Horacio Milla, María Elena Schapovaloff, Maria Soledad Frissolo, María Isabel Remis, Jorge Luis Cladera, Silvia Beatriz Lanzavecchia
{"title":"Geographic distribution of sex chromosome polymorphism in Anastrepha fraterculus sp. 1 from Argentina.","authors":"María Cecilia Giardini, Mariela Nieves, Alejandra Carla Scannapieco, Claudia Alejandra Conte, Fabián Horacio Milla, María Elena Schapovaloff, Maria Soledad Frissolo, María Isabel Remis, Jorge Luis Cladera, Silvia Beatriz Lanzavecchia","doi":"10.1186/s12863-020-00944-1","DOIUrl":"10.1186/s12863-020-00944-1","url":null,"abstract":"<p><strong>Background: </strong>Anastrepha fraterculus is recognized as a quarantine pest in several American countries. This fruit fly species is native to the American continent and distributed throughout tropical and subtropical regions. It has been reported as a complex of cryptic species, and at least eight morphotypes have been described. Only one entity of this complex, formerly named Anastrepha fraterculus sp. 1, is present in Argentina. Previous cytogenetic studies on this morphotype described the presence of sex chromosome variation identified by chromosomal size and staining patterns. In this work, we expanded the cytological study of this morphotype by analyzing laboratory strains and wild populations to provide information about the frequency and geographic distribution of these sex chromosome variants. We analyzed the mitotic metaphases of individuals from four laboratory strains and five wild populations from the main fruit-producing areas of Argentina, including the northwest (Tucumán and La Rioja), northeast (Entre Ríos and Misiones), and center (Buenos Aires) of the country.</p><p><strong>Results: </strong>In wild samples, we observed a high frequency of X<sub>1</sub>X<sub>1</sub> (0.94) and X<sub>1</sub>Y<sub>5</sub> (0.93) karyomorphs, whereas X<sub>1</sub>X<sub>2</sub> and X<sub>1</sub>Y<sub>6</sub> were exclusively found at a low frequency in Buenos Aires (0.07 and 0.13, respectively), Entre Ríos (0.16 and 0.14, respectively) and Tucumán (0.03 and 0.04, respectively). X<sub>2</sub>X<sub>2</sub> and X<sub>2</sub>Y<sub>5</sub> karyomorphs were not found in wild populations but were detected at a low frequency in laboratory strains. In fact, karyomorph frequencies differed between wild populations and laboratory strains. No significant differences among A. fraterculus wild populations were evidenced in either karyotypic or chromosomal frequencies. However, a significant correlation was observed between Y<sub>5</sub> chromosomal frequency and latitude.</p><p><strong>Conclusions: </strong>We discuss the importance of cytogenetics to understand the possible route of invasion and dispersion of this pest in Argentina and the evolutionary forces acting under laboratory conditions, possibly driving changes in the chromosomal frequencies. Our findings provide deep and integral genetic knowledge of this species, which has become of relevance to the characterization and selection of valuable A. fraterculus sp. 1 strains for mass rearing production and SIT implementation.</p>","PeriodicalId":9197,"journal":{"name":"BMC Genetics","volume":"21 Suppl 2","pages":"149"},"PeriodicalIF":2.9,"publicationDate":"2020-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7747450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38727852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}